Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Shaanxi Institute for Pediatric Diseases, |
RCV001717980 | SCV001934182 | pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2021-09-20 | criteria provided, single submitter | clinical testing | The c.2461_2462insGAGCCACACCGGCG（p.E821Gfs*28) variant in BCL11B has not been reported in the HGMD, ClinVar and literatures. This is a confirmed de novo variant and was absent in the gnomAD Database. Based on current evidence, this variant is defined as a pathogenic variant. In summary, the p.E821Gfs*28 variant meets our criteria to be classified as a pathogenic. |
| Mendelics | RCV002246460 | SCV002518568 | pathogenic | Immunodeficiency 49 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV001717980 | SCV002767041 | pathogenic | Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities | 2022-09-02 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0105 - The mechanism of disease for this gene is not clearly established. (I) 0107 - This gene is associated with autosomal dominant disease. (I) 0205 - Variant is predicted to result in a truncated protein (premature termination codon is NOT located at least 54 nucleotides upstream of the final exon-exon junction) with less than 1/3 of the protein sequence affected. (SP) 0251 - This variant is heterozygous. (I) 0301 - Variant is absent from gnomAD (both v2 and v3). (SP) 0703 - Other variants comparable to the one identified in this case have moderate previous evidence for pathogenicity. Two downstream variants predicted to result in a truncated protein [c.2616_2617del (p.Met873fs); c.2472C>A (p.Tyr824Ter)] have been reported as likely pathogenic with limited phenotypic information provided (ClinVar). (SP) 0802 - This variant has moderate previous evidence of pathogenicity in unrelated individuals. This variant has two pathogenic reports in ClinVar, one of the reports specified that the variant was de novo in an individual with intellectual disability (ClinVar). (SP) 1007 - No published functional evidence has been identified for this variant. (I) 1102 - Strong phenotype match for this individual. (SP) 1208 - Inheritance information for this variant is not currently available in this individual. (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |